Marie Joubert MD, FRCP. Canadian neurologist.

  • Montreal Children’s Hospital
  • Demonstrator in Neurology; Montreal neurological hospital

Medical Eponyms
Joubert syndrome (1969)

Joubert syndrome is a clinically and genetically heterogeneous group of disorders characterized by hypoplasia of the cerebellar vermis with the characteristic neuroradiologic ‘molar tooth sign,’ and accompanying neurologic symptoms, including dysregulation of breathing pattern and developmental delay [OMIM #213300]

In 1969, Joubert et al, described 4 French Canadian sibs, born of distantly related parents, with a severe neurologic disorder characterized by episodic hyperpnea, abnormal eye movements, ataxia, and global psychomotor retardation. Partial or complete agenesis of the cerebellar vermis was demonstrated by autopsy or pneumoencephalogram. One patient also had an occipital meningomyelocele. The oldest living sib was 8 years old. [OMIM #614615; JBTS17]

In 1977, Boltshauser and Isler suggested the designation of Joubert syndrome (based on the 1969 article) and described 3 cases, 2 of them sibs.

Major Publications


Graduated from Cardiff Medical School in 2017 with MBBCh and BSc in Psychology and Medicine. Currently working as a doctor in the emergency department at Sir Charles Gairdner Hospital in Perth, Australia.

BA MA (Oxon) MBChB (Edin) FACEM FFSEM. Emergency physician, Sir Charles Gairdner Hospital.  Passion for rugby; medical history; medical education; and asynchronous learning #FOAMed evangelist. Co-founder and CTO of Life in the Fast lane | Eponyms | Books | Twitter |

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